Linked Data
ClinVar Variation Id:
190469
dbSNP Id:
rs876661305
gnomAD v4:
16-14610669-G-A
PubMed:
PMID:25848748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14610669G>A , CM000678.2:g.14610669G>A | GRCh38 |
| NC_000016.9:g.14704526G>A , CM000678.1:g.14704526G>A | GRCh37 |
| NC_000016.8:g.14612027G>A | NCBI36 |
| NG_042871.1:g.24603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697471.1:n.980C>T | ||
| ENST00000697472.1:n.675C>T | ||
| ENST00000697473.1:n.654C>T | ||
| ENST00000697474.1:c.529C>T | ENSP00000513329.1:p.Gln177Ter | |
| ENST00000697475.1:n.684C>T | ||
| ENST00000697476.1:n.662C>T | ||
| ENST00000697477.1:n.664C>T | ||
| ENST00000437198.7:c.529C>T MANE Select | ENSP00000387911.2:p.Gln177Ter | |
| ENST00000563641.6:c.*293C>T | ENSP00000458103.1:n.*293C>T | |
| ENST00000564113.6:n.639C>T | ||
| ENST00000650960.1:c.529C>T | ENSP00000499110.1:p.Gln177Ter | |
| ENST00000650990.1:c.529C>T | ENSP00000498741.1:p.Gln177Ter | |
| ENST00000651027.1:c.529C>T | ENSP00000498640.1:p.Gln177Ter | |
| ENST00000651049.1:c.529C>T | ENSP00000498644.1:p.Gln177Ter | |
| ENST00000651241.1:n.1555C>T | ||
| ENST00000651300.1:c.*423C>T | ENSP00000498294.1:n.*423C>T | |
| ENST00000651348.1:c.529C>T | ENSP00000498315.1:p.Gln177Ter | |
| ENST00000651634.1:c.529C>T | ENSP00000499078.1:p.Gln177Ter | |
| ENST00000651760.1:c.329C>T | ||
| ENST00000651865.1:c.379C>T | ENSP00000498567.1:p.Gln127Ter | |
| ENST00000651913.1:c.479C>T | ||
| ENST00000652051.1:c.529C>T | ENSP00000498898.1:p.Gln177Ter | |
| ENST00000652066.1:c.234C>T | ||
| ENST00000652411.1:n.686C>T | ||
| ENST00000652501.1:c.529C>T | ENSP00000498261.1:p.Gln177Ter | |
| ENST00000652541.1:c.*263C>T | ENSP00000499206.1:n.*263C>T | |
| ENST00000652727.1:c.529C>T | ENSP00000498650.1:p.Gln177Ter | |
| ENST00000341484.11:c.346C>T | ENSP00000345456.7:p.Gln116Ter | |
| ENST00000420015.6:c.391C>T | ENSP00000410525.2:p.Gln131Ter | |
| ENST00000437198.6:c.529C>T | ENSP00000387911.2:p.Gln177Ter | |
| ENST00000538472.5:c.478C>T | ENSP00000445659.1:p.Gln160Ter | |
| ENST00000539279.5:c.178-6443C>T | ENSP00000444381.1:n.178-6443C>T | |
| ENST00000563155.1:n.31C>T | ||
| ENST00000563641.5:c.*263C>T | ENSP00000458103.1:n.*263C>T | |
| ENST00000566021.1:n.594C>T | ||
| ENST00000569444.5:c.75C>T | ||
| NM_001134477.2:c.346C>T | NP_001127949.1:p.Gln116Ter | |
| NM_001242992.1:c.391C>T | NP_001229921.1:p.Gln131Ter | |
| NM_002582.3:c.529C>T | NP_002573.1:p.Gln177Ter | |
| XM_011522510.1:c.529C>T | XP_011520812.1:p.Gln177Ter | |
| XM_011522511.1:c.529C>T | XP_011520813.1:p.Gln177Ter | |
| XM_011522512.1:c.529C>T | XP_011520814.1:p.Gln177Ter | |
| XM_011522513.1:c.346C>T | XP_011520815.1:p.Gln116Ter | |
| XM_011522514.1:c.529C>T | XP_011520816.1:p.Gln177Ter | |
| NM_002582.4:c.529C>T MANE Select | NP_002573.1:p.Gln177Ter | |
| XM_011522510.3:c.529C>T | XP_011520812.1:p.Gln177Ter | |
| XM_011522511.2:c.529C>T | XP_011520813.1:p.Gln177Ter | |
| XM_011522513.2:c.346C>T | XP_011520815.1:p.Gln116Ter | |
| XM_011522514.2:c.529C>T | XP_011520816.1:p.Gln177Ter | |
| XM_017023258.2:c.529C>T | XP_016878747.1:p.Gln177Ter | |
| XM_017023259.2:c.-265C>T | XP_016878748.1:n.-265C>T | |
| XM_017023260.1:c.-265C>T | XP_016878749.1:n.-265C>T | |
| XM_024450292.1:c.-1003C>T | XP_024306060.1:n.-1003C>T | |
| XR_001751906.2:n.690C>T | ||
| XR_001751907.2:n.690C>T | ||
| NM_001134477.3:c.346C>T | NP_001127949.1:p.Gln116Ter | |
| NM_001242992.2:c.391C>T | NP_001229921.1:p.Gln131Ter |